Canonical Allele Identifier: CA1030294231
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1668088604
gnomAD v3: 2-47782999-C-G
gnomAD v4: 2-47782999-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782999C>G , CM000664.2:g.47782999C>G GRCh38
NC_000002.11:g.48010138C>G , CM000664.1:g.48010138C>G GRCh37
NC_000002.10:g.47863642C>G NCBI36
NG_007111.1:g.4853C>G , LRG_219:g.4853C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7928C>G ENSP00000498629.1:n.-37-7928C>G
ENST00000606499.1:c.-37-7928C>G ENSP00000475605.1:n.-37-7928C>G
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